IGSR

Expands in data type and population diversity the resources from the 1000 Genomes Project. IGSR represents the largest open collection of human variation data and provides easy access to these resources. IGSR was established in 2015 to maintain and extend the 1000 Genomes Project data, which has been widely used as a reference set of human variation and by researchers developing analysis methods. IGSR has mapped all of the 1000 Genomes sequence to the newest human reference (GRCh38), and will release updated variant calls to ensure maximal usefulness of the existing data. IGSR is collecting new structural variation data on the 1000 Genomes samples from long read sequencing and other technologies, and will collect relevant functional data into a single comprehensive resource. IGSR is extending coverage with new populations sequenced by collaborating groups.

IGSR citations

(4)

library_books

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

2018

PMCID: 5853083

PMID: 29540233

DOI: 10.1186/s13256-018-1608-0

[…] ified variants in ATP7B gene were determined by using the following public databases: dbSNP Common 144 of the National Center for Biotechnology Information (NCBI), 1000 Genomes Project phase 3 of The International Genome Sample Resource (IGSR; www.1000genomes.org), Exome Aggregation Consortium (ExAC) version 0.3, and the Iranian Genome Project (https://irangenes.com/data-2/).In silico predictions […]

call_split

Identification of Seven Novel Mutations in the Acid Alpha glucosidase Gene in Five Chinese Patients with Late onset Pompe Disease

Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project

[…] ions (N = 378) []. File conversions and manipulations were performed using EIG v4.2 [], VCF tools [] and PLINK []. The VCF files for the Phase 3 release of 1000 Genomes Project were obtained from The International Genome Sample Resource (IGSR) server (http://www.internationalgenome.org/data/). The single nucleotide polymorphisms (SNPs) that passed the default quality control check and were marked […]

call_split

Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data

[…] E gene to determine allele frequency of the general population based on dbSNP Build 142. For comparison, we also downloaded the frequency of SNVs in the HFE gene of 1000Genome using VCF file from The International Genome Sample Resource. We then queried it through tabix. Clinical data such as gender, age, race, ethnicity, histological type, survival and outcome, and HFE gene expression level were […]

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